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The Fall of Pompe
Transcript of The Fall of Pompe
How does it help?
Process? Target: aged 3-14
Benefits? Prevent kids from their death sentence.
Many scientists and families are struggling to find cures. The Fall of Pompeii By: Lia Yu, Alex Drossos The Decline of Glycogen storage disease Abstract Rare
Defect in Gene
Heart+Muscles are often affected Why? History Joannes Cassianus Pompe
Christian De Duve
Henri G. Hers Causes Mutation in a gene that makes an enzyme called alpha-glucosidase (GAA)
Mutations can reduce or eliminate this enzyme.
GAA: used to break down glycogen. (sugar) Without GAA, your body accumulates glycogen. The heart and skeletal muscles are most affected. Research Being Done Future THEORY We hope that the introduction of a working copy of the gene will increase levels of the enzyme and decrease levels of glycogen. This theory may improve muscle function and increase the patient's ability to breathe without the help of mechanical ventilation. Symptoms Late onset:
-Partial deficiency of GAA
-Muscular and respiratory weakness
-Impaired cough and recurrent chest infections Early onset:
-Almost complete deficiency of GAA
-Poor weight gain
-Head lag Aim/Target Right now the aim of our research is treating the side affects and the complications rather than finding the cure to Pompe. Budget 3 years in total
Lab- 600,000 $
1 Lab Technician- 30,000 $
1Geneticists- 300,000 $
1 Microbiologist- 300,000 $
Lab equipment- 15,000 $
1 Cardiologist- 450,000 $
1 Neurologist- 300,000 $
1 Respiratory therapist- 150,000 $
10 Interns- 75,000 $
Total Cost: $2,190,000
Location of Lab- Washington DC Overall Grant Proposal We are asking for 2,190,000 $ to fund our research which
in three years will give us the information to create a cure
that will ultimately cure infants with any complications
associated with Pompe. In Conclusion... Where do we want to take our research?
Where did it all start? Thank you for listening.